A research team funded by the Foundation Fighting Blindness used an innovative repair technique to correct the disease-causing genetic defect in stem cells derived from a person’s skin — stem cells that hold the potential to treat their retinal degenerative condition.
Using a process reported on previously by the Foundation, investigators first reprogrammed the skin cells of a person with a genetic retinal condition to an embryonic-like state. The researcher’s next step — correcting the genetic defect — is a new and critical advancement in making those cells effective and safe as a treatment. The team is also working to develop these cells, known as induced pluripotent stem cells or iPS cells, into healthy retinal pigment epithelial (RPE) cells, which in a future clinical trial, could be transplanted back into the person’s retina.
While this study is evaluating the treatment approach for gyrate atrophy, a severe, progressive retinal degenerative disease that is manifested initially in RPE cells, the technique could potentially be used for a variety of retinal conditions that affect other types of cells.
Generally speaking, cell-based treatments for retinal disease are used in one of two ways — to replace cells lost to disease or preserve cells that are still viable.
“The iPS cell approach is attractive because the patient serves as their own cell source for treatment. There’s no need to use embryonic stem cells or cells from other sources,” says Stephen Rose, Ph.D., chief research officer, Foundation Fighting Blindness. “This study is proof of principle that we can correct the genetic mutation in the cells and potentially use them as a personalized therapy.”
David Gamm, M.D., Ph.D., an investigator on the study from the University of Wisconsin, says that the team’s ultimate goal is to move the treatment technique into a clinical trial, adding that they must first ensure that the iPS cells are safe.“We are pleased that the process of repairing the genetic defect did not introduce new, potentially harmful genetic variations into the iPS cells. The whole collaborative team, led by Dr. Sara Howden, has made good progress in addressing an important issue related to the therapeutic use of these cells,” he says. “However, more work needs to be done to ensure safety.”
“The Foundation is committed to funding scientists like Dr. Gamm who are validating and ensuring the stability of iPS cells to make them appropriate for clinical applications,” says Dr. Rose. “At the same time, we are also committed to funding other stem cell types, which are genetically stable and have already moved into clinical trials such as the studies being conducted by Advanced Cell Technology for dry age-related macular degeneration and Stargardt disease. It is important that we keep funding both iPS and other stem cell types to identify the best options for our patients.”
The study was funded in part through the Foundation’s Translational Research Acceleration Program, which is comprised of grants that have strong clinical potential.
Results of the study were published on April 4, 2011 in the online edition of the Proceedings of the National Academy Sciences. |
